DiGeorge Syndrome (DGS) Critical Region 8 (DGCR8) is a primary candidate gene in they DGS. The DGCR8 microprocessor complex subunit is an essential cofactor in the canonical miRNA biogenesis which is involved in diverse cellular functions such as cell fate decisions, apoptosis and different signaling pathways. However, the role of DGCR8 in these processes or development of DGS is not fully understood. Here we present a heterozygous DGCR8 mutant human embryonic stem cell line (HuES9^DGCR8+/−) created by the CRISPR/Cas9 system. The generated HuES9^DGCR8+/− cells maintain normal karyotype, morphology, pluripotency and differentiation capacity into all three germ layers.

迪乔治综合征 (DGS) 关键区 8 (DGCR8) 是 DGS 中的主要候选基因。 DGCR8 微处理器复合体亚基是典型 miRNA 生物发生中的重要辅助因子，参与多种细胞功能，如细胞命运决定、细胞凋亡和不同的信号通路。然而，DGCR8 在这些过程或 DGS 发展中的作用尚未完全了解。在这里，我们展示了由 CRISPR/Cas9 系统创建的杂合 DGCR8 突变人类胚胎干细胞系 (HuES9 ^DGCR8+/- )。生成的 HuES9 ^DGCR8+/-细胞保持正常的核型、形态、多能性和分化为所有三个胚层的能力。